Genomics

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DeepMind develops new tool to predict pathogenicity of missense variants

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on disease.

19 Sep 2023

Analyzing longitudinal genomic surveillance of carriage intensive care unit

Hospital staff spend a significant amount of time working to protect patients from acquiring infections while they are being cared for in the hospital.

19 Sep 2023

Nanoparticle gene delivery system shows promise for treating ARDS

Discovery from the lab of Youyang Zhao, PhD, from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago offers promising treatment approaches for acute respiratory distress syndrome (ARDS) in the elderly that can be caused by severe COVID-19, pneumonia, flu or sepsis. Currently there are no pharmacological or cell-based treatments for ARDS.

19 Sep 2023

Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

Researchers at The Ohio State University Wexner Medical Center and College of Medicine led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

19 Sep 2023

New research offers insight about the reason mitochondrial DNA is maternally inherited

New research provides insight about the bedrock scientific principle that mitochondrial DNA - the distinct genetic code embedded in the organelle that serves as the powerplant of every cell in the body - is exclusively passed down by the mother.

19 Sep 2023

Single-cell screening of cerebral organoids to identify developmental defects in autism

Researchers develop CRISPR-human organoids-single-cell RNA sequencing system to identify developmental brain defects in autism.

18 Sep 2023

MGI's innovative technologies Is enabling sequencing of first plant species in the African BioGenome project

MGI, a company committed to building core tools and technology to lead life science, is delighted to support The African BioGenome Project (AfricaBP), launched in 2021, in sequencing of the project's first plant species based on MGI's DNBSEQ-G400* versatile benchtop sequencer and single-tube long fragment read (stLFR) technology.

From MGI 18 Sep 2023

BU researchers receive NIH grant to identify genetic factors for Alzheimer's disease

The National Institutes of Health/National Institute on Aging recently awarded a $13.7 million grant to a project led by Boston University Chobanian & Avedisian School of Medicine principal investigators Lindsay Farrer, PhD, chief of biomedical genetics and distinguished professor of genetics, and Richard Sherva, PhD, assistant professor of medicine in biomedical genetics, for research using whole genome sequencing and other approaches to identify genetic factors for Alzheimer disease (AD) in Jews currently living in Israel who trace their ancestors to southern Spain and locations in the Middle East and North Africa (MENA) and Arab citizens of Israel.

15 Sep 2023

NICER: A safer alternative to CRISPR/Cas9 for gene editing

The gene editing technique CRISPR/Cas9 has allowed researchers to make precise and impactful changes to an organism's DNA to fix mutations that cause genetic disease.

15 Sep 2023

New genetic test reveals a person’s predisposition to happiness

Your happiness levels aren't only based on external events. Genome testing can reveal how happy and optimistic you are predisposed to be. A leading testing expert reveals how variations of a key gene, CNR1, may have a significant impact on your level of happiness.

15 Sep 2023

Comparative genomic analysis between systemic juvenile rheumatoid arthritis and type 1 diabetes

Shared genetic markers and immune system involvement in sJRA and T1D.

15 Sep 2023

Novel amino acid mutations suggest local monkeypox transmission in Guangzhou, China

The monkeypox (mpox) virus has caused worldwide transmission since its initial report in England in early May 2022.

15 Sep 2023

Genetic sequencing shows promise as first-tier newborn screening test

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders.

14 Sep 2023

JAX offers a fully validated, clinical whole genome sequencing test

Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.

14 Sep 2023

Research provides key insights into the molecular underpinnings of acute liver injury

In a study published in the journal of Genes & Diseases, a team of researchers from Chonnam National University and the Korea Research Institute of Bioscience and Biotechnology unveiled important insights into liver injury and its underlying molecular mechanisms.

14 Sep 2023

MIT study reveals why immunotherapy doesn't work for all cancer patients

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14 Sep 2023

Innovative technique provides unparalleled insight into autism pathology

Does the human brain have an Achilles heel that ultimately leads to Autism? With a revolutionizing novel system that combines brain organoid technology and intricate genetics, researchers can now comprehensively test the effect of multiple mutations in parallel and at a single-cell level within human brain organoids.

13 Sep 2023

Genomics

DeepMind develops new tool to predict pathogenicity of missense variants

Analyzing longitudinal genomic surveillance of carriage intensive care unit

Nanoparticle gene delivery system shows promise for treating ARDS

Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

New research offers insight about the reason mitochondrial DNA is maternally inherited

Single-cell screening of cerebral organoids to identify developmental defects in autism

MGI's innovative technologies Is enabling sequencing of first plant species in the African BioGenome project

BU researchers receive NIH grant to identify genetic factors for Alzheimer's disease

NICER: A safer alternative to CRISPR/Cas9 for gene editing

New genetic test reveals a person’s predisposition to happiness

Comparative genomic analysis between systemic juvenile rheumatoid arthritis and type 1 diabetes

Novel amino acid mutations suggest local monkeypox transmission in Guangzhou, China

Genetic sequencing shows promise as first-tier newborn screening test

JAX offers a fully validated, clinical whole genome sequencing test

Research provides key insights into the molecular underpinnings of acute liver injury

MIT study reveals why immunotherapy doesn't work for all cancer patients

Innovative technique provides unparalleled insight into autism pathology

UC Riverside study uncovers COVID's Achilles heel

AfricaBP aims to foster grassroots knowledge exchange in biodiversity genomics and bioinformatics

Genetics and diet shape insulin signaling in mice

Unveiling Hidden Potential: Organoids for Disease Modeling in Neuroscience Research

How GLP‑1 Agonists Are Shaping the Future of Obesity Treatment With Dr Bryony Henderson

Flow chemistry, AI, and NMR: A next-gen approach to scalable API production

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